title: A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay.
abstract: The interstitial duplication of the long arm of chromosome 19 is a rare abnormality, characterized by developmental delay and dysmorphic features, also reported in association with cardiac, urinary, and CNS malformations. We describe a new case of de novo 19q12-q13.2 duplication characterized by fluorescent in situ hybridization (FISH) and array comparative genomic hybridization (CGH) and, by reviewing the data from previous articles, we report a tentative genotype/phenotype correlation. Four previously described cases showed the same or overlapping 19q duplications and shared with our patient common dysmorphisms, psychomotor retardation, and CNS malformations. The present description of a new case of 19q12-q13.2 duplication with a molecular cytogenetic and genomic characterization adds further elements to the understanding of the impact of the genomic segment on the phenotype.
authors.affiliation: Neonatology Unit, Department of Mother & Child, University of Modena, Via del Pozzo 71, Modena, Italy.
authors.forename: Licia
authors.initials: L
authors.lastname: Lugli
authors.forename: Michela
authors.initials: M
authors.lastname: Malacarne
authors.forename: Simona
authors.initials: S
authors.lastname: Cavani
authors.forename: Mauro
authors.initials: M
authors.lastname: Pierluigi
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Ferrari
authors.forename: Antonio
authors.initials: A
authors.lastname: Percesepe
mesh_terms: D002490:Central Nervous System / Q000254:growth & development* / Q000473:pathology; D002675:Child, Preschool; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D003582:Cytogenetics / Q000379:methods; D002658:Developmental Disabilities / Q000235:genetics*; D005500:Follow-Up Studies; D020440:Gene Duplication; D018507:Gene Expression Regulation, Developmental; D015894:Genome, Human; D005838:Genotype; D006321:Heart / Q000254:growth & development* / Q000503:physiopathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D010641:Phenotype